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Aliases for NKAIN3 Gene

Aliases for NKAIN3 Gene

  • Sodium/Potassium Transporting ATPase Interacting 3 2 3
  • Na+/K+ Transporting ATPase Interacting 3 2 3 5
  • Na(+)/K(+)-Transporting ATPase Subunit Beta-1-Interacting Protein 3 3 4
  • Family With Sequence Similarity 77, Member D 2 3
  • FAM77D 3 4
  • Sodium/Potassium-Transporting ATPase Subunit Beta-1-Interacting Protein 3 3
  • Protein FAM77D 4

External Ids for NKAIN3 Gene

Previous HGNC Symbols for NKAIN3 Gene

  • FAM77D

Previous GeneCards Identifiers for NKAIN3 Gene

  • GC08P063326
  • GC08P063161
  • GC08P058649

Summaries for NKAIN3 Gene

Entrez Gene Summary for NKAIN3 Gene

  • NKAIN3 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]

GeneCards Summary for NKAIN3 Gene

NKAIN3 (Sodium/Potassium Transporting ATPase Interacting 3) is a Protein Coding gene. Diseases associated with NKAIN3 include Dravet Syndrome. An important paralog of this gene is NKAIN2.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NKAIN3 Gene

Genomics for NKAIN3 Gene

Regulatory Elements for NKAIN3 Gene

Enhancers for NKAIN3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F062296 0.4 ENCODE 11.7 +48.1 48080 0.7 TEAD4 NKAIN3 ENSG00000254050
GH08F062010 1.4 FANTOM5 ENCODE 6.2 -237.0 -236964 1.3 JUND JUN CEBPB FOS NR3C1 EP300 MAFK NKAIN3 NARSP2 C1GALT1P3
GH08F062247 0.6 ENCODE 5.7 +0.3 343 2.8 RING1 CTCF ZIC2 ZFHX2 GLIS2 POLR2A NR2F6 TCF7L2 EZH2 EGR2 NKAIN3 ENSG00000254050
GH08F062162 1.3 Ensembl ENCODE 4.5 -83.9 -83917 2.9 TBP CTCF PKNOX1 JUN MAX RAD21 YY1 GATA3 POLR2A NFYB NKAIN3 LOC392226
GH08F062161 0.4 FANTOM5 1.8 -86.1 -86149 0.4 NKAIN3 LOC392226
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NKAIN3 on UCSC Golden Path with GeneCards custom track

Promoters for NKAIN3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001393089 290 2001 RING1 CTCF RNF2 L3MBTL2 NR3C1 ZIC2 TGIF2 ZFHX2 SMARCA4 POLR2A

Genomic Location for NKAIN3 Gene

Chromosome:
8
Start:
62,248,310 bp from pter
End:
62,999,652 bp from pter
Size:
751,343 bases
Orientation:
Plus strand

Genomic View for NKAIN3 Gene

Genes around NKAIN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NKAIN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NKAIN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NKAIN3 Gene

Proteins for NKAIN3 Gene

  • Protein details for NKAIN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N8D7-NKAI3_HUMAN
    Recommended name:
    Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3
    Protein Accession:
    Q8N8D7

    Protein attributes for NKAIN3 Gene

    Size:
    197 amino acids
    Molecular mass:
    22620 Da
    Quaternary structure:
    • Interacts with ATP1B1.

neXtProt entry for NKAIN3 Gene

Post-translational modifications for NKAIN3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NKAIN3 Gene

No data available for DME Specific Peptides for NKAIN3 Gene

Domains & Families for NKAIN3 Gene

Gene Families for NKAIN3 Gene

Protein Domains for NKAIN3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NKAIN3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N8D7

UniProtKB/Swiss-Prot:

NKAI3_HUMAN :
  • Belongs to the NKAIN family.
Family:
  • Belongs to the NKAIN family.
genes like me logo Genes that share domains with NKAIN3: view

Function for NKAIN3 Gene

Phenotypes for NKAIN3 Gene

genes like me logo Genes that share phenotypes with NKAIN3: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NKAIN3 Gene

Localization for NKAIN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NKAIN3 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NKAIN3 Gene COMPARTMENTS Subcellular localization image for NKAIN3 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for NKAIN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NKAIN3: view

Pathways & Interactions for NKAIN3 Gene

SuperPathways for NKAIN3 Gene

No Data Available

Interacting Proteins for NKAIN3 Gene

Gene Ontology (GO) - Biological Process for NKAIN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002028 regulation of sodium ion transport IBA --
genes like me logo Genes that share ontologies with NKAIN3: view

No data available for Pathways by source and SIGNOR curated interactions for NKAIN3 Gene

Transcripts for NKAIN3 Gene

mRNA/cDNA for NKAIN3 Gene

(7) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NKAIN3 Gene

Na+/K+ transporting ATPase interacting 3:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NKAIN3 Gene

No ASD Table

Relevant External Links for NKAIN3 Gene

GeneLoc Exon Structure for
NKAIN3
ECgene alternative splicing isoforms for
NKAIN3

Expression for NKAIN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NKAIN3 Gene

mRNA differential expression in normal tissues according to GTEx for NKAIN3 Gene

This gene is overexpressed in Brain - Amygdala (x5.8), Brain - Nucleus accumbens (basal ganglia) (x5.6), Brain - Caudate (basal ganglia) (x5.6), and Brain - Putamen (basal ganglia) (x5.1).

Protein differential expression in normal tissues from HIPED for NKAIN3 Gene

This gene is overexpressed in Fetal Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NKAIN3 Gene



Protein tissue co-expression partners for NKAIN3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NKAIN3 Gene:

NKAIN3

SOURCE GeneReport for Unigene cluster for NKAIN3 Gene:

Hs.654662
genes like me logo Genes that share expression patterns with NKAIN3: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for NKAIN3 Gene

Orthologs for NKAIN3 Gene

This gene was present in the common ancestor of animals.

Orthologs for NKAIN3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NKAIN3 34 35
  • 99.83 (n)
oppossum
(Monodelphis domestica)
Mammalia NKAIN3 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NKAIN3 34
  • 91.25 (n)
cow
(Bos Taurus)
Mammalia NKAIN3 34
  • 90.5 (n)
rat
(Rattus norvegicus)
Mammalia Nkain3 34
  • 89.27 (n)
mouse
(Mus musculus)
Mammalia Nkain3 34 16 35
  • 87.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NKAIN3 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves NKAIN3 34 35
  • 82.31 (n)
lizard
(Anolis carolinensis)
Reptilia NKAIN3 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nkain3 34
  • 74.81 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:100920 35
  • 56 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta NKAIN 34 35
  • 52.97 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007012 34
  • 51.53 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3479 35
  • 34 (a)
OneToMany
Species where no ortholog for NKAIN3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NKAIN3 Gene

ENSEMBL:
Gene Tree for NKAIN3 (if available)
TreeFam:
Gene Tree for NKAIN3 (if available)

Paralogs for NKAIN3 Gene

Paralogs for NKAIN3 Gene

(4) SIMAP similar genes for NKAIN3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with NKAIN3: view

Variants for NKAIN3 Gene

Sequence variations from dbSNP and Humsavar for NKAIN3 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1002905 -- 62,945,401(-) AATAA(A/C)AAGGT intron-variant
rs1007597 -- 62,827,177(+) CATTG(C/T)TGTAG intron-variant
rs1007598 -- 62,827,398(+) AGCAG(C/T)GTTAC intron-variant
rs1007897 -- 62,829,043(-) ctccc(A/C)aaact intron-variant
rs10086439 -- 62,645,204(+) ACAGA(A/G)TTGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NKAIN3 Gene

Variant ID Type Subtype PubMed ID
dgv1289e199 CNV deletion 23128226
dgv891n27 CNV loss 19166990
esv1237672 CNV insertion 17803354
esv1466080 CNV insertion 17803354
esv2150762 CNV deletion 18987734
esv2159853 CNV deletion 18987734
esv21736 CNV gain 19812545
esv23915 CNV loss 19812545
esv2421340 CNV deletion 20811451
esv2422825 CNV insertion 19546169
esv2443694 CNV loss 19546169
esv2484852 CNV deletion 19546169
esv2662945 CNV deletion 23128226
esv2668890 CNV deletion 23128226
esv2676648 CNV deletion 23128226
esv275026 CNV loss 21479260
esv2756711 CNV loss 18971310
esv2759621 CNV loss 17122850
esv2761215 CNV loss 21179565
esv2761216 CNV loss 21179565
esv2761431 CNV loss 21179565
esv2761432 CNV loss 21179565
esv27863 CNV loss 19812545
esv29132 CNV loss 19812545
esv32676 CNV loss 17666407
esv3305938 CNV mobile element insertion 20981092
esv3352813 CNV insertion 20981092
esv3353865 CNV duplication 20981092
esv3355468 CNV insertion 20981092
esv3378563 CNV insertion 20981092
esv3389079 CNV insertion 20981092
esv3410567 CNV insertion 20981092
esv3543580 CNV deletion 23714750
esv3543581 CNV deletion 23714750
esv3572795 CNV loss 25503493
esv3617408 CNV loss 21293372
esv3617409 CNV loss 21293372
esv3617410 CNV loss 21293372
esv3617411 CNV gain 21293372
esv3617415 CNV gain 21293372
esv3617416 CNV loss 21293372
esv3617417 CNV loss 21293372
esv3617418 CNV loss 21293372
esv3617419 CNV loss 21293372
esv3891405 CNV loss 25118596
esv3891406 CNV gain 25118596
nsv1016883 CNV gain 25217958
nsv1018879 CNV gain 25217958
nsv1019143 CNV loss 25217958
nsv1128424 CNV deletion 24896259
nsv1140909 CNV deletion 24896259
nsv1143209 CNV tandem duplication 24896259
nsv1145920 CNV deletion 26484159
nsv1161766 CNV deletion 26073780
nsv396044 CNV deletion 16902084
nsv398074 CNV insertion 16902084
nsv398473 CNV insertion 16902084
nsv398476 CNV deletion 16902084
nsv442520 CNV loss 18776908
nsv472576 CNV novel sequence insertion 20440878
nsv474411 CNV novel sequence insertion 20440878
nsv478493 CNV novel sequence insertion 20440878
nsv499495 CNV loss 21111241
nsv515094 CNV loss 21397061
nsv515602 CNV loss 19592680
nsv517136 CNV loss 19592680
nsv521804 CNV loss 19592680
nsv611445 CNV loss 21841781
nsv611446 CNV loss 21841781
nsv611447 CNV loss 21841781
nsv6225 CNV deletion 18451855
nsv6226 CNV insertion 18451855
nsv6227 CNV deletion 18451855
nsv818632 CNV loss 17921354
nsv818634 CNV loss 17921354
nsv818635 CNV loss 17921354
nsv831339 CNV gain 17160897
nsv831340 CNV loss 17160897
nsv831341 CNV loss 17160897
nsv8356 CNV loss 18304495
nsv967598 CNV duplication 23825009
nsv967599 CNV duplication 23825009
nsv971315 CNV duplication 23825009

Variation tolerance for NKAIN3 Gene

Residual Variation Intolerance Score: 72.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.58; 82.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NKAIN3 Gene

Human Gene Mutation Database (HGMD)
NKAIN3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NKAIN3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NKAIN3 Gene

Disorders for NKAIN3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NKAIN3 Gene - From: GeneCards

Disorder Aliases PubMed IDs
dravet syndrome
  • dravet syndrome, modifier of
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NKAIN3

Genetic Association Database (GAD)
NKAIN3
Human Genome Epidemiology (HuGE) Navigator
NKAIN3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NKAIN3
genes like me logo Genes that share disorders with NKAIN3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NKAIN3 Gene

Publications for NKAIN3 Gene

  1. Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men. (PMID: 22437554) Major J.M. … Albanes D. (J. Nutr. 2012) 3 46 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. A novel family of transmembrane proteins interacting with beta subunits of the Na,K-ATPase. (PMID: 17606467) Gorokhova S. … Heintz N. (Hum. Mol. Genet. 2007) 2 3 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. (PMID: 24623842) Carvill G.L. … Mefford H.C. (Neurology 2014) 3 64

Products for NKAIN3 Gene

Sources for NKAIN3 Gene

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